Incidental Mutation 'R4587:Trim72'
ID |
344173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim72
|
Ensembl Gene |
ENSMUSG00000042828 |
Gene Name |
tripartite motif-containing 72 |
Synonyms |
MG53, mitsugumin 53 |
MMRRC Submission |
042006-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R4587 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127603121-127610205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127607164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 231
(D231G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081042]
[ENSMUST00000106248]
|
AlphaFold |
Q1XH17 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081042
AA Change: D231G
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000079832 Gene: ENSMUSG00000042828 AA Change: D231G
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
5.14e-7 |
SMART |
BBOX
|
81 |
122 |
3.89e-7 |
SMART |
coiled coil region
|
135 |
169 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
232 |
N/A |
INTRINSIC |
PRY
|
288 |
341 |
6.48e-13 |
SMART |
Pfam:SPRY
|
342 |
472 |
4.9e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106248
AA Change: D231G
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101855 Gene: ENSMUSG00000042828 AA Change: D231G
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
5.14e-7 |
SMART |
BBOX
|
81 |
122 |
3.89e-7 |
SMART |
coiled coil region
|
135 |
169 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
232 |
N/A |
INTRINSIC |
PRY
|
288 |
341 |
6.48e-13 |
SMART |
Pfam:SPRY
|
344 |
465 |
1.7e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206216
|
Meta Mutation Damage Score |
0.0777 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
PHENOTYPE: Mice with disruption of this gene display muscle pathologies that develop with age. Mice homozygous for a knock-out allele exhibit enhanced myogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
Cd244a |
T |
G |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
Lmtk3 |
A |
G |
7: 45,443,504 (GRCm39) |
D729G |
possibly damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
Skint4 |
G |
A |
4: 111,944,221 (GRCm39) |
C11Y |
probably damaging |
Het |
Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
Tbcd |
T |
C |
11: 121,496,097 (GRCm39) |
V1044A |
possibly damaging |
Het |
Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
Zfp51 |
C |
T |
17: 21,685,178 (GRCm39) |
Q598* |
probably null |
Het |
Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
probably damaging |
Het |
Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably damaging |
Het |
|
Other mutations in Trim72 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02195:Trim72
|
APN |
7 |
127,607,136 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02538:Trim72
|
APN |
7 |
127,603,942 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02794:Trim72
|
APN |
7 |
127,603,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03077:Trim72
|
APN |
7 |
127,607,013 (GRCm39) |
missense |
probably benign |
|
H8786:Trim72
|
UTSW |
7 |
127,603,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R1101:Trim72
|
UTSW |
7 |
127,609,419 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1711:Trim72
|
UTSW |
7 |
127,603,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R1826:Trim72
|
UTSW |
7 |
127,607,016 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1853:Trim72
|
UTSW |
7 |
127,608,254 (GRCm39) |
missense |
probably benign |
0.01 |
R1854:Trim72
|
UTSW |
7 |
127,608,254 (GRCm39) |
missense |
probably benign |
0.01 |
R2513:Trim72
|
UTSW |
7 |
127,603,878 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4163:Trim72
|
UTSW |
7 |
127,607,080 (GRCm39) |
missense |
probably benign |
0.05 |
R5027:Trim72
|
UTSW |
7 |
127,607,137 (GRCm39) |
missense |
probably damaging |
0.99 |
R5067:Trim72
|
UTSW |
7 |
127,609,139 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5276:Trim72
|
UTSW |
7 |
127,603,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R5290:Trim72
|
UTSW |
7 |
127,609,176 (GRCm39) |
missense |
probably benign |
0.03 |
R5339:Trim72
|
UTSW |
7 |
127,609,505 (GRCm39) |
missense |
probably benign |
|
R5410:Trim72
|
UTSW |
7 |
127,609,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R6301:Trim72
|
UTSW |
7 |
127,603,786 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6594:Trim72
|
UTSW |
7 |
127,609,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Trim72
|
UTSW |
7 |
127,609,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Trim72
|
UTSW |
7 |
127,606,821 (GRCm39) |
missense |
probably benign |
0.18 |
R7372:Trim72
|
UTSW |
7 |
127,603,858 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7937:Trim72
|
UTSW |
7 |
127,609,491 (GRCm39) |
missense |
probably benign |
0.03 |
R9228:Trim72
|
UTSW |
7 |
127,608,315 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9364:Trim72
|
UTSW |
7 |
127,609,173 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9668:Trim72
|
UTSW |
7 |
127,609,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGAGTCTTCTCATCCCCAC -3'
(R):5'- TCTGAACCACAGTCAGAGTACC -3'
Sequencing Primer
(F):5'- AGACAGTGCGCCAGTTC -3'
(R):5'- CAACACTGATATGAAGTCCTAGCTTG -3'
|
Posted On |
2015-09-24 |